Gene Summary

Name:
protogenin
Synonyms:
Igdcc5,  A230098A12Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Prtgem1(IMPC)Bay HOM   Early adult 0.00
cleft palate Prtgem1(IMPC)Bay HOM E18.5 0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Eye Morphology

VIP of right fundus

15 Images

Eye Morphology

VIP of right eye

15 Images

Eye Morphology

VIP of left fundus

15 Images

Eye Morphology

VIP of left eye

15 Images

Human diseases caused by Prtg mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Prtg by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Syngnathia
Cleft palate OMIM:119550
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Non-midline cleft lip, Cleft palate ORPHA:1074
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate OMIM:119540
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip OMIM:137215
Cleft Palate-Lateral Synechia Syndrome
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth ORPHA:2016
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:261800
Isolated Arrhinia
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... ORPHA:1134
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Uvula, Bifid
Bifid uvula OMIM:192100
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Holoprosencephaly 4
Depressed nasal bridge, Absent nasal septal cartilage, Depressed nasal tip OMIM:142946
2q33.1 deletion syndrome
High palate, Cleft palate DECIPHER:51
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele, Depressed nasal ridge, Absent nasal septal cartilage ORPHA:2003
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Cleft Soft Palate
Cleft soft palate OMIM:119570
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip OMIM:179400
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Polyrrhinia
Abnormal external nose morphology, Supernumerary naris, Abnormal nasal bone morphology ORPHA:141091
Weaver-Williams Syndrome
Cleft palate, Narrow mouth ORPHA:3448
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Wide nose, Abnormal nasal bone morphology, Choanal atresia, Underdeveloped nasal alae, Bifid nasa... ORPHA:521308
Parc Syndrome
Cleft palate OMIM:600331
Holoprosencephaly 7
Hypoplasia of the premaxilla, Flat nasal alae, Absent nasal septal cartilage, Wide nasal bridge, ... OMIM:610828
Boomerang Dysplasia
Severe short stature, Underdeveloped nasal alae, Wide nasal bridge, Hypoplastic nasal septum, Neo... OMIM:112310
Holzgreve Syndrome
Cleft palate, Cleft upper lip OMIM:236110
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Cleft palate, Non-midline cleft lip, Lip pit ORPHA:1072
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate OMIM:258320
17Q11.2 Microduplication Syndrome
Short stature, Abnormal dental enamel morphology, Bifid nose, Enamel hypoplasia, Thick nasal alae... ORPHA:139474
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Short stature, Anosmia, Epiphyseal stippling, Short nose, Short nasal septum OMIM:302950
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... ORPHA:199306
Facial Clefting, Oblique, 1
Cleft palate, Cleft upper lip OMIM:600251
Anencephaly 2
Median cleft lip, Median cleft palate, Cleft maxillary alveolar ridge OMIM:619452
Carey-Fineman-Ziter Syndrome 2
Underdeveloped nasal alae, Anteverted nares, Abnormal nasal septum morphology, Micrognathia OMIM:619941
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cleft lip, Cleft palate OMIM:612370
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Cleft palate OMIM:217150
Chromosome 15Q14 Deletion Syndrome
Tented upper lip vermilion, Cleft lip, Cleft palate, Short philtrum, Everted lower lip vermilion OMIM:616898
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Non-midline cleft lip, Cleft palate ORPHA:1484
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft palate, Cleft upper lip OMIM:120433
Holoprosencephaly 2
Aplasia of the nasal bone, Aplasia of the premaxilla, Proboscis, Absent nasal septal cartilage OMIM:157170
Zimmermann-Laband Syndrome 2
Bifid nasal tip, Prominent nasal septum, Short stature, Underdeveloped nasal alae OMIM:616455
Gorlin-Chaudhry-Moss Syndrome
Short stature, Hypoplasia of the maxilla, Patent ductus arteriosus, Coronal craniosynostosis, Umb... ORPHA:2095
Frontonasal Dysplasia 2
Encephalocele, Aplasia of the nasal bone, Cleft ala nasi, Anteverted nares, Depressed nasal bridg... OMIM:613451
Cleft Lip And Alveolus
Abnormal nasal morphology, Abnormal nasal septum morphology, Dysphagia ORPHA:141291
Microphthalmia, Syndromic 11
Cleft palate, Cleft upper lip OMIM:614402
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Submucous cleft hard palate, Bifid uvula, Cleft palate ORPHA:2521
Acitretin/Etretinate Embryopathy
Aplasia/Hypoplasia of the maxilla, Hypoplastic nasal septum, Anteverted nares, Micrognathia ORPHA:40366
Vexas Syndrome
Nasal chondritis, Chondritis of pinna, Arthritis OMIM:301054
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Mandibular prognathia, Short stature, Prominent nasal bridge, Prominent nose, Growth delay, Dysph... OMIM:619576
Diprosopus
Non-midline cleft lip, Cleft palate ORPHA:1681
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate ORPHA:2736
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Hypoplasia of the nasal bone, Moderate postnatal growth retardation, Knee flexio... OMIM:118650
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Severe short stature, Depressed nasal bridge, Osteomalacia, Micrognathia, Joint stiff... ORPHA:1901
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Aplasia of the nasal bone, Flexion contracture of finger, Prominent na... OMIM:601812
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Non-midline cleft lip, Ectopic anus, Cleft palate ORPHA:2476
Hypophosphatasia, Adult
Recurrent fractures, Osteomalacia, Carious teeth, Rickets, Increased susceptibility to fractures,... OMIM:146300
Craniopharyngioma
Abnormal nasal bone morphology, Proportionate short stature, Postnatal growth retardation, Increa... ORPHA:54595
Vitamin D-Dependent Rickets, Type 2A
Delayed eruption of teeth, Recurrent fractures, Carious teeth, Delayed epiphyseal ossification, R... OMIM:277440
Multiple Synostoses Syndrome 1
Proximal/middle symphalangism of 5th toe, Tarsal synostosis, Underdeveloped nasal alae, Wide nasa... OMIM:186500
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Short stature, Osteomalacia, Rickets OMIM:193100
Lymphatic Malformation 5
Cleft palate OMIM:153200
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... OMIM:600785
Hypophosphatemic Bone Disease
Short stature, Osteomalacia, Rickets OMIM:146350
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Short stature, Epistaxis, Rickets OMIM:211600
Crouzon Syndrome
Mandibular prognathia, Sagittal craniosynostosis, Hypoplasia of the maxilla, Lambdoidal craniosyn... OMIM:123500
Ramos-Arroyo Syndrome
Severe short stature, Anteverted nares, Depressed nasal bridge, Carious teeth, Patent ductus arte... ORPHA:1051
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Short stature, Osteomalacia, Postnatal growth retardation, Delayed epi... ORPHA:289157
Usher Syndrome, Type Ig
Hypoplasia of the nasal bone OMIM:606943
Autosomal Dominant Hypophosphatemic Rickets
Growth delay, Osteomalacia, Rickets, Tooth abscess ORPHA:89937
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Short stature, Anorexia, Rickets OMIM:611590
Neu-Laxova Syndrome
Osteopenia, Osteomalacia, Spina bifida, Micrognathia, Trismus, Flexion contracture, Depressed nas... ORPHA:2671
Hypophosphatemic Rickets, X-Linked Recessive
Short stature, Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Spars... OMIM:300554
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed eruption of teeth, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Growth ... OMIM:264700
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Short stature, Osteomalacia, Reduced bone mineral density, Growth delay, Hypophosphatemic rickets... ORPHA:157215
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Growth delay, Sparse bone trabecul... OMIM:600081
Hypocalcemic Vitamin D-Resistant Rickets
Short stature, Recurrent fractures, Osteomalacia, Bone cyst, Osteolysis, Abnormal bone structure,... ORPHA:93160
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Growth delay, Sparse bone trabecul... OMIM:241530
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Wide nose, Rhizomelia... ORPHA:93357
Hypophosphatemic Rickets, X-Linked Dominant
Short stature, Osteomalacia, Osteoarthritis, Enamel hypomineralization, Rickets, Hypophosphatemic... OMIM:307800
Cystinosis
Short stature, Rickets, Delayed puberty, Polydipsia, Abnormal repetitive mannerisms ORPHA:213
Fanconi Renotubular Syndrome 2
Osteopenia, Short stature, Recurrent fractures, Osteomalacia, Rickets OMIM:613388
Maternal Phenylketonuria
Hyperactivity, Anteverted nares, Micrognathia, Wide nasal bridge, Intrauterine growth retardation... ORPHA:2209
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Growth delay, Rickets OMIM:602722
Fanconi Renotubular Syndrome 3
Growth delay, Short stature, Rickets OMIM:615605
Infantile Systemic Hyalinosis
Osteopenia, Severe short stature, Osteomalacia, Recurrent fractures, Camptodactyly of finger, Joi... ORPHA:2176
Fibrous Dysplasia Of Bone
Thin bony cortex, Short stature, Osteomalacia, Fibrous dysplasia of the bones, Rickets, Abnormal ... ORPHA:249
Dent Disease 1
Short stature, Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Spars... OMIM:300009
Rubinstein-Taybi Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Prominent nose, Flexion contracture, Spina bifida occult... OMIM:180849
Autosomal Recessive Hypophosphatemic Rickets
Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, S... ORPHA:289176
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
X-Linked Hypophosphatemia
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Disproportionate short stature, Li... ORPHA:89936
Celiac Disease, Susceptibility To, 1
Short stature, Postnatal growth retardation, Osteoporosis, Rickets, Delayed puberty, Enamel hypop... OMIM:212750
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Nasolacrimal Duct Cyst
Nasal congestion, Deviated nasal septum ORPHA:141083
Fanconi Renotubular Syndrome 1
Short stature, Osteomalacia, Rickets OMIM:134600
Genitourinary And/Or Brain Malformation Syndrome
Aplasia of the nasal bone, Joint stiffness, Micrognathia, Attention deficit hyperactivity disorde... OMIM:618820
Mccune-Albright Syndrome
Osteomalacia, Recurrent fractures, Fibrous dysplasia of the bones, Dental malocclusion, Nasal con... ORPHA:562
Hypercholanemia, Familial 1
Rickets OMIM:607748
Sting-Associated Vasculopathy, Infantile-Onset
Nasal septum perforation, Joint stiffness OMIM:615934
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets OMIM:560000
Congenital Bile Acid Synthesis Defect Type 2
Postnatal growth retardation, Rickets ORPHA:79303
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Short stature, Recurrent fractures, Rickets OMIM:268315
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormally ossified vertebrae, Severe short stature, Osteomalacia, Prominent nose, Mi... ORPHA:2636
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Narrow nasal bridge, Joint laxity, Impulsivity, Prominent nose, Aggressive behavior, Patent ductu... OMIM:300967
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Micrognathia, Compulsive behaviors, Abnormal repetitive mannerisms, Joint laxity, Hyperactivity, ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Micrognathia, Compulsive behaviors, Abnormal repetitive mannerisms, Joint laxity, Hyperactivity, ... ORPHA:353277
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Coffin-Lowry Syndrome
Mandibular prognathia, Hyperextensibility of the finger joints, Wide nose, Short stature, Antever... OMIM:303600
Distal Renal Tubular Acidosis
Short stature, Osteomalacia, Rickets, Reduced bone mineral density, Growth delay, Increased susce... ORPHA:18
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Short stature, Rickets OMIM:612089
Fanconi-Bickel Syndrome
Growth delay, Osteopenia, Rickets ORPHA:2088
Fanconi-Bickel Syndrome
Postnatal growth retardation, Rickets, Osteomalacia OMIM:227810
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Delayed eruption of teeth, Short stature, Abnormal dental enamel morpholog... ORPHA:534
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Short stature, Rickets OMIM:616026
Lowe Oculocerebrorenal Syndrome
Short stature, Osteomalacia, Camptodactyly of finger, Aggressive behavior, Postnatal growth retar... OMIM:309000
Occipital Horn Syndrome
Osteopenia, Osteomalacia, Osteoporosis, Rickets, Osteolysis, Abnormality of the sense of smell, J... ORPHA:198
Wilson Disease
Osteomalacia, Osteoarthritis, Osteoporosis, Dysphagia, Hyposmia, Joint hypermobility OMIM:277900
Dent Disease
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... ORPHA:1652
Pancreatic Triacylglycerol Lipase Deficiency
Growth delay, Osteoporosis, Osteomalacia, Rickets ORPHA:309031
Bile Acid Synthesis Defect, Congenital, 1
Rickets OMIM:607765
Infantile Nephropathic Cystinosis
Growth delay, Polydipsia, Rickets ORPHA:411629
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Short stature, Rickets, Reduced bone mineral density, Growth delay, Int... OMIM:613658
Cystinosis, Nephropathic
Short stature, Oral-pharyngeal dysphagia, Rickets, Dysphagia, Growth delay, Delayed puberty, Hypo... OMIM:219800
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Branchiooculofacial Syndrome
Depressed nasal bridge, Micrognathia, Postnatal growth retardation, Broad nasal tip, Cleft of chi... OMIM:113620
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia OMIM:600740
Primary Fanconi Renotubular Syndrome
Growth delay, Hypophosphatemic rickets, Osteomalacia, Increased susceptibility to fractures ORPHA:3337
Immunodeficiency 82 With Systemic Inflammation
Arthritis, Osteomyelitis, Osteomalacia, Anorexia OMIM:619381
Generalized Arterial Calcification Of Infancy
Calcification of the auricular cartilage, Osteomalacia, Abnormal calcification of the carpal bone... ORPHA:51608
Familial Hypocalciuric Hypercalcemia
Osteomalacia ORPHA:405

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Prtg

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Prtg.

No publications found that use IMPC mice or data for Prtg.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Prtgem1(IMPC)Bay Exon Deletion Mice
Prtgtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Prtgtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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